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High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

Molecular psychiatry, 2010-09, Vol.15 (9), p.954-968

2010

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A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia

Clinical genetics, 2016-09, Vol.90 (3), p.258-262

2016

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.584-600

2021

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Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

Journal of medical genetics, 2011-01, Vol.48 (1), p.48-54

2011

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Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

Human reproduction (Oxford), 2006-10, Vol.21 (10), p.2467-2473

2006

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FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Human molecular genetics, 2015-07, Vol.24 (14), p.4183-4183

2015

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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Journal of medical genetics, 2023-05, Vol.60 (5), p.505-510

2023

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Validity of Charlson Comorbidity Index in patients hospitalised with acute coronary syndrome. Insights from the nationwide AMIS Plus registry 2002–2012

Heart (British Cardiac Society), 2014-02, Vol.100 (4), p.288-294

2014

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Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

Frontiers in immunology, 2019-06, Vol.10, p.1150

2019

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Twenty-Year Trends in the Incidence and Outcome of Cardiogenic Shock in AMIS Plus Registry

Circulation. Cardiovascular interventions, 2019-04, Vol.12 (4), p.e007293-e007293

2019

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Temporal trends in the treatment and outcomes of elderly patients with acute coronary syndrome

European heart journal, 2016-04, Vol.37 (16), p.1304-1311

2016

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FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency

Science advances, 2021-12, Vol.7 (49), p.eabj9247-eabj9247

2021

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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Brain (London, England : 1878), 2013-03, Vol.136 (Pt 3), p.944-956

2013

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Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

Clinical immunology (Orlando, Fla.), 2015-10, Vol.160 (2), p.301-314

2015

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Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Nature communications, 2014-04, Vol.5 (1), p.3756-3756, Article 3756

2014

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Burnout in ICU Caregivers: A Multicenter Study of Factors Associated to Centers

American journal of respiratory and critical care medicine, 2011-11, Vol.184 (10), p.1140-1146

2011

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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

American journal of human genetics, 2015-09, Vol.97 (3), p.378-388

2015

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The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

Nature communications, 2014-06, Vol.5 (1), p.4074, Article 4074

2014

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Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

Haematologica (Roma), 2013-09, Vol.98 (9), p.1383-1387

2013

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Erythrocytosis associated with a novel missense mutation in the BPGM gene

Haematologica (Roma), 2014-10, Vol.99 (10), p.e201-e204

2014

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Acute multivessel revascularization improves 1-year outcome in ST-elevation myocardial infarction A nationwide study cohort from the AMIS Plus registry

International journal of cardiology, 2014-03, Vol.172 (1), p.76-81

2014

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Inpatient versus outpatient onsets of acute myocardial infarction

European journal of internal medicine, 2015-07, Vol.26 (6), p.414-419

2015

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Outcome of patients admitted with acute coronary syndrome on palliative treatment: insights from the nationwide AMIS Plus Registry 1997–2014

BMJ open, 2015-03, Vol.5 (3), p.e006218-e006218

2015

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Gender-related mortality trends among diabetic patients with ST-segment elevation myocardial infarction: insights from a nationwide registry 1997–2010

European heart journal. Acute cardiovascular care, 2013-12, Vol.2 (4), p.342-349

2013

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High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Validity of Charlson Comorbidity Index in patients hospitalised with acute coronary syndrome. Insights from the nationwide AMIS Plus registry 2002–2012

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Twenty-Year Trends in the Incidence and Outcome of Cardiogenic Shock in AMIS Plus Registry

Temporal trends in the treatment and outcomes of elderly patients with acute coronary syndrome

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Burnout in ICU Caregivers: A Multicenter Study of Factors Associated to Centers

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I

Erythrocytosis associated with a novel missense mutation in the BPGM gene

Acute multivessel revascularization improves 1-year outcome in ST-elevation myocardial infarction A nationwide study cohort from the AMIS Plus registry

Inpatient versus outpatient onsets of acute myocardial infarction

Outcome of patients admitted with acute coronary syndrome on palliative treatment: insights from the nationwide AMIS Plus Registry 1997–2014

Gender-related mortality trends among diabetic patients with ST-segment elevation myocardial infarction: insights from a nationwide registry 1997–2010

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